Variant report

Variant	rs11613804
Chromosome Location	chr12:119455888-119455889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11611295	0.82[EUR][1000 genomes]
rs11611903	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11616189	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030825	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34242467	0.81[EUR][1000 genomes]
rs34498019	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34504443	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35090273	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35233512	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35508299	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35791460	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995108	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61939810	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119450200-119456800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:119450600-119456400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:119451000-119460000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:119452400-119456000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:119452600-119456800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:119452800-119456800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:119452800-119458000	Weak transcription	Fetal Brain Female	brain
8	chr12:119454800-119458600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:119455000-119459000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:119455000-119459000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:119455200-119456000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:119455200-119457400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:119455400-119456800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr12:119455600-119458000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:119455600-119459000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:119455800-119457800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:119455800-119459000	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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